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    Ap4m1 adaptor-related protein complex AP-4, mu 1 [ Mus musculus (house mouse) ]

    Gene ID: 11781, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ap4m1provided by MGI
    Official Full Name
    adaptor-related protein complex AP-4, mu 1provided by MGI
    Primary source
    MGI:MGI:1337063
    See related
    Ensembl:ENSMUSG00000019518 AllianceGenome:MGI:1337063
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ap4m4; 4930443L05Rik
    Summary
    Predicted to enable protein domain specific binding activity. Involved in protein targeting. Predicted to be located in early endosome. Predicted to be part of AP-4 adaptor complex. Predicted to be active in cytoplasmic vesicle and trans-Golgi network. Is expressed in brain. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 50. Orthologous to human AP4M1 (adaptor related protein complex 4 subunit mu 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 32.8), ovary adult (RPKM 26.7) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ap4m1 in Genome Data Viewer
    Location:
    5 G2; 5 76.98 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (138170283..138178691)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (138172021..138180429)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene microRNA 106b Neighboring gene minichromosome maintenance complex component 7 Neighboring gene microRNA 93 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:138612151-138612338 Neighboring gene STARR-positive B cell enhancer ABC_E1693 Neighboring gene STARR-positive B cell enhancer ABC_E1694 Neighboring gene TATA-box binding protein associated factor 6 Neighboring gene STARR-seq mESC enhancer starr_14665 Neighboring gene canopy FGF signaling regulator 4 Neighboring gene metallo-beta-lactamase domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. Chen X, et al. J Clin Invest, 2023 May 15. PMID 36951961, Free PMC Article
    2. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Verkerk AJ, et al. Am J Hum Genet, 2009 Jul. PMID 19559397, Free PMC Article
    3. Characterization of a fourth adaptor-related protein complex. Hirst J, et al. Mol Biol Cell, 1999 Aug. PMID 10436028, Free PMC Article
    4. AP-4, a novel protein complex related to clathrin adaptors. Dell'Angelica EC, et al. J Biol Chem, 1999 Mar 12. PMID 10066790
    5. Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4. Matsuda S, et al. Neuron, 2008 Mar 13. PMID 18341993

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi to endosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in Golgi to endosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in Golgi to lysosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi to lysosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in Golgi to lysosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in autophagosome assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in autophagosome assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intracellular protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within intracellular protein transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein targeting IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein targeting IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein targeting ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein targeting to lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein targeting to lysosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle-mediated transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within vesicle-mediated transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of AP-4 adaptor complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of AP-4 adaptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of AP-4 adaptor complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of clathrin adaptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in trans-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in trans-Golgi network NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in trans-Golgi network TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AP-4 complex subunit mu-1
    Names
    AP-4 adapter complex mu subunit
    AP-4 adaptor complex mu subunit
    adapter-related protein complex 4 mu-1 subunit
    adapter-related protein complex 4 subunit mu-1
    adaptor-related protein complex 4 subunit mu-1
    adaptor-related protein complex AP-4 mu4 subunit
    mu subunit of AP-4
    mu-ARP2
    mu-adaptin-related protein 2
    mu4
    mu4-adaptin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_021392.4 → NP_067367.3  AP-4 complex subunit mu-1

      See identical proteins and their annotated locations for NP_067367.3

      Status: VALIDATED

      Source sequence(s)
      AF242858, BE627979, CJ159660
      Consensus CDS
      CCDS19794.1
      UniProtKB/Swiss-Prot
      Q9JKC7
      UniProtKB/TrEMBL
      Q8CD17
      Related
      ENSMUSP00000019662.5, ENSMUST00000019662.11
      Conserved Domains (2) summary
      cl02092
      Location:1 → 130
      Clat_adaptor_s; Clathrin adaptor complex small chain
      cd09253
      Location:175 → 449
      AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      138170283..138178691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006504551.3 → XP_006504614.1  AP-4 complex subunit mu-1 isoform X1

      UniProtKB/TrEMBL
      Q8CD17
      Conserved Domains (2) summary
      cd09253
      Location:189 → 463
      AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
      cd14838
      Location:3 → 155
      AP4_Mu_N; AP-4 complex subunit mu N-terminal domain

    2. XM_030254077.1 → XP_030109937.1  AP-4 complex subunit mu-1 isoform X2

      Conserved Domains (1) summary
      cd09253
      Location:47 → 321
      AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4

    3. XM_030254076.1 → XP_030109936.1  AP-4 complex subunit mu-1 isoform X2

      Conserved Domains (1) summary
      cd09253
      Location:47 → 321
      AP-4_Mu4_Cterm; C-terminal domain of medium Mu4 subunit in adaptor protein (AP) complex AP-4
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JKC7.1 GenPept UniProtKB/Swiss-Prot:Q9JKC7

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